Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Definition
Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.
Also known as hypotonia, infantile, with psychomotor retardation and characteristic facies 2, hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2, hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80, hypotonia, infantile, with psychomotor retardation and characteristic facies type 2, IHPRF2, UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies — per MONDO